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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
8 associated genes
No signs/symptoms info
46,XY partial gonadal dysgenesis
Partial chromosome Y deletion

GATA4 DAZ1
MAP3K1 DAZ2
NR0B1 DAZ3
NR5A1 DAZ4
SRY DDX3Y
WT1 RBMY1A1
WWOX TSPY1
USP9Y


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WWOX
(0.63)
DDX3Y



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Partial chromosome Y deletion
DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
TSPY1 USP9Y



46,XY partial gonadal dysgenesis
Partial chromosome Y deletion

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- Male sterility due to chromosome Y deletion

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536297

46,XY partial gonadal dysgenesis

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Partial chromosome Y deletion

(no data available)